Canonical Allele Identifier: CA007472
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53067
ClinVar RCV Id: RCV000003299
dbSNP Id: rs397508116
MyVariant Identifiers: chr11:g.2591942del (hg19) chr11:g.2570712del (hg38)
PubMed: PMID:16922724
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570712del , CM000673.2:g.2570712del GRCh38
NC_000011.9:g.2591942del , CM000673.1:g.2591942del GRCh37
NC_000011.8:g.2548518del NCBI36
NG_008935.1:g.130722del , LRG_287:g.130722del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.301del ENSP00000434560.2:p.Trp101GlyfsTer?
ENST00000646564.2:c.478-12723del ENSP00000495806.2:n.478-12723del
ENST00000155840.12:c.562del MANE Select ENSP00000155840.2:p.Trp188GlyfsTer?
ENST00000335475.6:c.181del ENSP00000334497.5:p.Trp61GlyfsTer?
ENST00000646564.1:c.124-12723del ENSP00000495806.1:n.124-12723del
ENST00000155840.9:c.562del ENSP00000155840.2:p.Trp188GlyfsTer?
ENST00000335475.5:c.181del ENSP00000334497.5:p.Trp61GlyfsTer?
ENST00000496887.6:c.301del ENSP00000434560.1:p.Trp101GlyfsTer?
NM_000218.2:c.562del , LRG_287t1:c.562del NP_000209.2:p.Trp188GlyfsTer?
NM_181798.1:c.181del , LRG_287t2:c.181del NP_861463.1:p.Trp61GlyfsTer?
NM_000218.3:c.562del MANE Select NP_000209.2:p.Trp188GlyfsTer?
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